Mutagenetix > Incidental Mutations

Incidental Mutation 'R7015:Rsrc1'

545237

Institutional Source

Beutler Lab

Gene Symbol

Rsrc1

Ensembl Gene

ENSMUSG00000034544

Gene Name

arginine/serine-rich coiled-coil 1

Synonyms

1200013F24Rik, SRrp53

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R7015 (G1)

Quality Score

215.009

Status

Validated

Chromosome

Chromosomal Location

66981390-67358396 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66994649 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 44 (P44L)

Ref Sequence

ENSEMBL: ENSMUSP00000125547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046542] [ENSMUST00000065047] [ENSMUST00000065074] [ENSMUST00000160504] [ENSMUST00000161726] [ENSMUST00000162036] [ENSMUST00000162362] [ENSMUST00000162693]

Predicted Effect

unknown
Transcript: ENSMUST00000046542
AA Change: P44L

SMART Domains

Protein: ENSMUSP00000047077
Gene: ENSMUSG00000034544
AA Change: P44L

Domain	Start	End	E-Value	Type
low complexity region	3	116	N/A	INTRINSIC
coiled coil region	138	191	N/A	INTRINSIC
low complexity region	223	236	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000065047
AA Change: P44L

SMART Domains

Protein: ENSMUSP00000066967
Gene: ENSMUSG00000034544
AA Change: P44L

Domain	Start	End	E-Value	Type
low complexity region	3	109	N/A	INTRINSIC
coiled coil region	122	175	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000065074
AA Change: P44L

SMART Domains

Protein: ENSMUSP00000066797
Gene: ENSMUSG00000034544
AA Change: P44L

Domain	Start	End	E-Value	Type
low complexity region	3	95	N/A	INTRINSIC
low complexity region	98	159	N/A	INTRINSIC
coiled coil region	180	233	N/A	INTRINSIC
low complexity region	265	278	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000160504
AA Change: P44L

SMART Domains

Protein: ENSMUSP00000124925
Gene: ENSMUSG00000034544
AA Change: P44L

Domain	Start	End	E-Value	Type
low complexity region	3	59	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000161726
AA Change: P44L

SMART Domains

Protein: ENSMUSP00000124347
Gene: ENSMUSG00000034544
AA Change: P44L

Domain	Start	End	E-Value	Type
low complexity region	3	95	N/A	INTRINSIC
low complexity region	98	159	N/A	INTRINSIC
coiled coil region	180	233	N/A	INTRINSIC
low complexity region	265	278	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000162036
AA Change: P44L

SMART Domains

Protein: ENSMUSP00000125468
Gene: ENSMUSG00000034544
AA Change: P44L

Domain	Start	End	E-Value	Type
low complexity region	3	95	N/A	INTRINSIC
low complexity region	98	159	N/A	INTRINSIC
coiled coil region	180	233	N/A	INTRINSIC
low complexity region	265	278	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000162362
AA Change: P44L

SMART Domains

Protein: ENSMUSP00000123699
Gene: ENSMUSG00000034544
AA Change: P44L

Domain	Start	End	E-Value	Type
low complexity region	3	59	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162620

Predicted Effect

unknown
Transcript: ENSMUST00000162693
AA Change: P44L

SMART Domains

Protein: ENSMUSP00000125547
Gene: ENSMUSG00000034544
AA Change: P44L

Domain	Start	End	E-Value	Type
low complexity region	3	88	N/A	INTRINSIC
low complexity region	96	157	N/A	INTRINSIC
coiled coil region	178	231	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182708

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

93% (55/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing. This gene may be associated with schizophrenia. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	A	G	1: 160,075,168	R3G	possibly damaging	Het
Abcc2	A	G	19: 43,798,178	I150V	probably benign	Het
Adgrb1	T	C	15: 74,574,110	L1085P	probably damaging	Het
Agbl4	A	G	4: 110,478,500	N24D	probably damaging	Het
Aox2	A	G	1: 58,282,758	T70A	probably benign	Het
Aplf	G	A	6: 87,641,902	A399V	probably damaging	Het
Asxl3	A	G	18: 22,523,921	S1663G	probably benign	Het
Bcat1	G	C	6: 145,039,583	P43R	probably damaging	Het
Camk1	T	C	6: 113,341,926	R9G	probably benign	Het
Casp8ap2	T	C	4: 32,644,278	V1117A	probably damaging	Het
Cd300ld4	A	T	11: 115,022,707	V174E	probably benign	Het
Cep85l	T	C	10: 53,349,055	D146G	possibly damaging	Het
Clip1	T	C	5: 123,613,612		probably benign	Het
Cog3	C	T	14: 75,713,276	V719I	possibly damaging	Het
Col4a4	G	A	1: 82,506,950	P532L	unknown	Het
Col6a4	C	T	9: 106,033,755		probably null	Het
Dync1h1	C	T	12: 110,666,087	Q4547*	probably null	Het
Ergic1	G	A	17: 26,654,879		probably benign	Het
Foxn4	G	A	5: 114,256,855	T337M	possibly damaging	Het
Gemin5	A	T	11: 58,156,740	I336N	probably damaging	Het
Gm21905	A	T	5: 67,946,362		probably null	Het
Grik2	C	A	10: 49,535,436	R202L	probably damaging	Het
Iglon5	T	C	7: 43,476,927	D184G	probably benign	Het
Il11ra1	A	T	4: 41,765,421	Q172L	probably benign	Het
Me2	G	T	18: 73,781,147		probably null	Het
Med24	A	G	11: 98,718,852	V73A	possibly damaging	Het
Mmp24	A	G	2: 155,792,624	Q88R	probably damaging	Het
Mroh3	A	T	1: 136,183,331	V819E	probably damaging	Het
Mrps9	A	G	1: 42,898,546	K247R	probably benign	Het
Myo15b	G	A	11: 115,871,844	R1254H		Het
Ncoa5	A	G	2: 165,002,081	L134P	probably benign	Het
Olfr628	T	C	7: 103,732,817	V297A	probably null	Het
Olfr78	C	A	7: 102,742,444	L186F	probably damaging	Het
Olfr984	A	T	9: 40,101,455	F12I	probably benign	Het
Pdcd11	A	G	19: 47,098,226	I224V	probably benign	Het
Ptprh	C	A	7: 4,552,627		probably null	Het
Rab34	G	T	11: 78,190,152	V63F	probably damaging	Het
Rack1	T	C	11: 48,801,765	I71T	probably benign	Het
Rai14	G	A	15: 10,589,315	R266*	probably null	Het
Rsph9	A	G	17: 46,129,456	V238A	probably benign	Het
Sel1l3	A	T	5: 53,172,574	C480S	probably benign	Het
Sh3pxd2a	C	T	19: 47,268,123	A747T	probably benign	Het
Slc1a3	T	C	15: 8,649,568	N181S	probably damaging	Het
Slit1	T	A	19: 41,629,886	K784*	probably null	Het
Sos2	T	A	12: 69,585,235	Q1297L	probably benign	Het
Srd5a2	T	A	17: 74,027,119	T102S	probably benign	Het
Ss18l2	A	T	9: 121,712,608	I64F	probably damaging	Het
Tas2r120	T	C	6: 132,657,165	F70S	possibly damaging	Het
Tjap1	G	A	17: 46,263,774	A5V	possibly damaging	Het
Tln2	A	T	9: 67,362,647	M488K	possibly damaging	Het
Tnks	T	G	8: 34,838,547	I42L	probably benign	Het
Togaram2	A	T	17: 71,709,568	Q640L	possibly damaging	Het
Triobp	C	A	15: 78,994,060	Q1682K	probably damaging	Het
Trip11	C	T	12: 101,893,683	E311K	probably damaging	Het
Ugt2b5	A	G	5: 87,139,796	Y171H	probably damaging	Het
Vmn2r66	T	C	7: 84,995,558	D548G	possibly damaging	Het
Zfp990	G	T	4: 145,536,635	D68Y	probably damaging	Het
Zranb2	A	T	3: 157,536,733		probably null	Het

Other mutations in Rsrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Rsrc1	APN	3	67082600	intron	probably benign
IGL03180:Rsrc1	APN	3	67082543	intron	probably benign
R0200:Rsrc1	UTSW	3	67180861	missense	probably damaging	0.99
R0463:Rsrc1	UTSW	3	67180861	missense	probably damaging	0.99
R1175:Rsrc1	UTSW	3	67356218	splice site	probably benign
R1293:Rsrc1	UTSW	3	67356279	missense	probably damaging	1.00
R1677:Rsrc1	UTSW	3	67355475	missense	probably damaging	0.97
R1981:Rsrc1	UTSW	3	67350005	missense	probably benign	0.18
R2039:Rsrc1	UTSW	3	66994618	missense	unknown
R4222:Rsrc1	UTSW	3	66994567	missense	unknown
R4624:Rsrc1	UTSW	3	67349978	missense	probably damaging	1.00
R4852:Rsrc1	UTSW	3	67355602	missense	probably damaging	1.00
R6102:Rsrc1	UTSW	3	66994649	missense	unknown
R6103:Rsrc1	UTSW	3	66994649	missense	unknown
R6104:Rsrc1	UTSW	3	66994649	missense	unknown
R6127:Rsrc1	UTSW	3	66994649	missense	unknown
R6129:Rsrc1	UTSW	3	66994649	missense	unknown
R6153:Rsrc1	UTSW	3	67355562	missense	probably benign	0.33
R6409:Rsrc1	UTSW	3	66994649	missense	unknown
R6410:Rsrc1	UTSW	3	66994649	missense	unknown
R6411:Rsrc1	UTSW	3	66994649	missense	unknown
R6412:Rsrc1	UTSW	3	66994649	missense	unknown
R6422:Rsrc1	UTSW	3	66994649	missense	unknown
R6424:Rsrc1	UTSW	3	66994649	missense	unknown
R6442:Rsrc1	UTSW	3	66994649	missense	unknown
R6487:Rsrc1	UTSW	3	66994649	missense	unknown
R6899:Rsrc1	UTSW	3	66994649	missense	unknown
R6910:Rsrc1	UTSW	3	66994649	missense	unknown
R6911:Rsrc1	UTSW	3	66994649	missense	unknown
R6912:Rsrc1	UTSW	3	66994649	missense	unknown
R6916:Rsrc1	UTSW	3	66994649	missense	unknown
R6917:Rsrc1	UTSW	3	66994649	missense	unknown
R6930:Rsrc1	UTSW	3	66994649	missense	unknown
R6931:Rsrc1	UTSW	3	66994649	missense	unknown
R6994:Rsrc1	UTSW	3	66994649	missense	unknown
R6995:Rsrc1	UTSW	3	66994649	missense	unknown
R6997:Rsrc1	UTSW	3	66994649	missense	unknown
R7010:Rsrc1	UTSW	3	66994649	missense	unknown
R7048:Rsrc1	UTSW	3	67180831	missense	probably damaging	0.99
R7078:Rsrc1	UTSW	3	66994654	missense	unknown
Z1176:Rsrc1	UTSW	3	67349982	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGCCAAGCACATGTTAGT -3'
(R):5'- GCTTTTGGGAGAAAGGTTGCA -3'

Sequencing Primer
(F):5'- GTTGGATCCAGGAGTTTACAGTCAAC -3'
(R):5'- TTTTGGGAGAAAGGTTGCAAAGGTAG -3'

Posted On

2019-05-13